Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP724379.RA_5LOeNHXhgRQxgk1Qx1gGz-assvtslj5VpiP0T5IgKU130_assertion> ?p ?o ?g. }
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- NP724379.RA_5LOeNHXhgRQxgk1Qx1gGz-assvtslj5VpiP0T5IgKU130_assertion type Assertion NP724379.RA_5LOeNHXhgRQxgk1Qx1gGz-assvtslj5VpiP0T5IgKU130_head.
- NP724379.RA_5LOeNHXhgRQxgk1Qx1gGz-assvtslj5VpiP0T5IgKU130_assertion description "[Heterozygous mutations in the human transcription factor gene NKX2.5 are associated with either isolated or combined congenital heart disease (CHD), primarily secundum atrial septal defect-II (ASD-II), ventricular septal defect (VSD) or tetralogy of Fallot (TOF).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP724379.RA_5LOeNHXhgRQxgk1Qx1gGz-assvtslj5VpiP0T5IgKU130_provenance.
- NP724379.RA_5LOeNHXhgRQxgk1Qx1gGz-assvtslj5VpiP0T5IgKU130_assertion evidence source_evidence_literature NP724379.RA_5LOeNHXhgRQxgk1Qx1gGz-assvtslj5VpiP0T5IgKU130_provenance.
- NP724379.RA_5LOeNHXhgRQxgk1Qx1gGz-assvtslj5VpiP0T5IgKU130_assertion SIO_000772 20456451 NP724379.RA_5LOeNHXhgRQxgk1Qx1gGz-assvtslj5VpiP0T5IgKU130_provenance.
- NP724379.RA_5LOeNHXhgRQxgk1Qx1gGz-assvtslj5VpiP0T5IgKU130_assertion wasDerivedFrom befree-20140225 NP724379.RA_5LOeNHXhgRQxgk1Qx1gGz-assvtslj5VpiP0T5IgKU130_provenance.
- NP724379.RA_5LOeNHXhgRQxgk1Qx1gGz-assvtslj5VpiP0T5IgKU130_assertion wasGeneratedBy ECO_0000203 NP724379.RA_5LOeNHXhgRQxgk1Qx1gGz-assvtslj5VpiP0T5IgKU130_provenance.